A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550060



Internal ID323657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42188896..42188938hg38UCSC Ensembl
chr6:42156634..42156676hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981602
Samples
Known GenesGUCA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550060
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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